Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment

Author:

Pinto Benzeeta,Deo Prateek,Sharma Susmita,Syal Arshi,Sharma AmanORCID

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Rheumatology

Reference96 articles.

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3. Meyts I, Aksentijevich I (2018) Deficiency of adenosine deaminase 2 (DADA2): Updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol 38:569–578. https://doi.org/10.1007/s10875-018-0525-8

4. Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, Bhatia P, Sharma V, Bhattad S, Chengappa, Gupta V, Misra DP, Chavan PP, Malaviya S, Dudam R, Sharma B, Kumar S, Bhojwani R, Gupta P, Agarwal V, Sharma K, Singhal M, Rathi M, Nada R, Minz RW, Chaturvedi V, Aggarwal A, Handa R, Grossi A, Gattorno M, Huang Z, Wang J, Jois R, Negi V, Khubchandani R, Jain S, Arostegui JI, Chambers EP, Hershfield MS, Aksentijevich I, Zhou Q, Lee PY (2020) Deficiency of adenosine deaminase 2 (DADA2) in adults and children: experience from India. Arthritis Rheumatol 73:276–285. https://doi.org/10.1002/art.41500

5. Van Montfrans JM, Hartman EAR, Braun KPJ, Hennekam EAM, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RGM, Kollen WJW, Schölvinck EH, Elizabeth Legger G, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJG, Bierings MB, Nierkens S, Van Gijn ME (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology (Oxford) 55:902–910. https://doi.org/10.1093/rheumatology/kev439

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